ABSTRACT
<p><b>OBJECTIVE</b>To fine map the gene responsible for pure paroxysmal kinesigenic dyskinesia in a Chinese family.</p><p><b>METHODS</b>Six additional markers flanking the tightly linked markers were chosen in the candidate region resulting from a whole genome-wide scanning and tested by parameter and nonparameter analysis using Linkage and Genehunter softwares to fine map the candidate region.</p><p><b>RESULTS</b>Evidence for linkage of the pure paroxysmal kinesigenic dyskinesia to chromosome 3 was further confirmed. A maximum two-lod score of 2.82 at theta=0 was obtained with D3S3669. Critical recombinants place the PKD gene between D3S1314 and D3S1265.</p><p><b>CONCLUSION</b>A new locus of pure paroxysmal kinesigenic dyskinesia (PKD) is localized within a 10.2 cM interval on 3q28-29, between markers D3S1314 and D3S1265.</p>
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Asian People , Genetics , Chorea , Genetics , Chromosome Mapping , Methods , Genetic Linkage , Genetic Markers , Genetics , Genome, Human , Genetics , Genomics , Haplotypes , PedigreeABSTRACT
OBJECTIVE@#To explore the diagnosis,therapy and prognosis of cerebral venous thrombosis (CVT).@*METHODS@#Twenty-two CVT patients were reviewed. The onset age, clinical manifestations, imaging, treatment, and prognosis were analyzed.@*RESULTS@#Their age ranged from 15 to 58 (mean 33.0+/-8.8) years. Nine were males and 13 were females (1:1.4), 41% of whom were women of childbearing age.This disease occurred rapidly, and the relative pathogeny could be found in most patients (59%), and the hypercoagulative state was the commonest one.The clinical manifestations were variable. Most patients had symptoms and signs of intracranial hypertension(86%), accompanied with or without focal neurological dysfunction and seizures. Disorders of consciousness were found in some sever conditions.The cerebrospinal fluid (CSF) pressure was significantly increased, and the quantity of proteins or white blood cells in CSF was nearly normal.The occluded dural sinus and the clot could be visualised directly by means of magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) or digital subtraction angiogrophy (DSA).After dehydration,anticoagulation,application of adrenal cortex hormone and etilogical treatment,9 patients improved,7 nearly cured, 2 had no changes,1 had cerebral hemorrhage, and 3 died.@*CONCLUSION@#CVT should be suspected when patients show manifestation of intracranial hypertension and/or focal neurological dysfunction and seizures. MRI and MRA are efficient choices for the early diagnosis of CVT. Early diagnosis and anticoagulation with heparin are keys to good prognosis.